Asunto(s)
Calcinosis/diagnóstico por imagen , Lupus Eritematoso Sistémico/diagnóstico , Enfermedades Cutáneas Metabólicas/diagnóstico por imagen , Brazo/diagnóstico por imagen , Calcinosis/terapia , Femenino , Dedos/diagnóstico por imagen , Humanos , Administración del Tratamiento Farmacológico , Persona de Mediana Edad , Radiografía , Enfermedades Cutáneas Metabólicas/terapiaRESUMEN
Primary hyperoxaluria (PH) is a rare genetic disorder with autosomal recessive transmission, characterized by high endogenous production and markedly excessive urinary excretion of oxalate (Ox). It causes the accumulation of calcium oxide crystals in organs and tissues including bones, heart, arteries, skin and kidneys, where it may cause oxalo-calcic nephrolithiasis, nephrocalcinosis and chronic renal failure. Some forms are secondary to enteric diseases, drugs or dietetic substances, while three primitive forms, caused by various enzymatic defects, are currently known: PH1, PH2 and PH3. An early diagnosis, with the aid of biochemical and genetic investigations, helps prevent complications and establish a therapeutic strategy that often includes liver and liver-kidney transplantation, improving the prognosis of these patients. In this work we describe the clinical case of a patient with PH1 undergoing extracorporeal hemodialysis treatment and we report the latest research results that could change the life of patients with PH.
Asunto(s)
Calcifilaxia/terapia , Hiperoxaluria Primaria/genética , Hiperoxaluria Primaria/terapia , Diálisis Renal/métodos , Enfermedades Cutáneas Metabólicas/terapia , Transaminasas/genética , Calcifilaxia/etiología , Calcifilaxia/patología , Compuestos de Calcio/metabolismo , Femenino , Glioxilatos/metabolismo , Hemodiafiltración/métodos , Humanos , Hiperoxaluria Primaria/diagnóstico , Fallo Renal Crónico/etiología , Trasplante de Riñón , Persona de Mediana Edad , Nefrocalcinosis/etiología , Nefrocalcinosis/terapia , Uso Fuera de lo Indicado , Oxalatos/metabolismo , Óxidos/metabolismo , Enfermedades Cutáneas Metabólicas/etiología , Enfermedades Cutáneas Metabólicas/patología , Tiosulfatos/uso terapéuticoRESUMEN
The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive inheritance of varying penetrance, and whose clinical expression differs according to the preferential location of haem precursors. Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. The clinical classification distinguishes between acute porphyria (acute intermittent porphyria, porphyria variegata, hereditary coproporphyria), bullous cutaneous porphyrias (porphyria cutanea tarda, porphyria variegata and hereditary coproporphyria), painful photosensitive acute cutaneous porphyrias (erythropoietic protoporphyria and X-linked dominant protoporphyria), and rare recessive porphyrias (congenital erythropoietic porphyria, Doss porphyria, hepatoerythropoietic porphyria and harderoporphyria). Treatment depends on the clinical expression of the disorder.
Asunto(s)
Porfirias , Enfermedades Cutáneas Metabólicas , Biopsia , Coproporfiria Hereditaria/diagnóstico , Coproporfiria Hereditaria/genética , Coproporfiria Hereditaria/terapia , Diagnóstico Diferencial , Hemo/biosíntesis , Humanos , Trastornos por Fotosensibilidad/complicaciones , Trastornos por Fotosensibilidad/diagnóstico , Trastornos por Fotosensibilidad/terapia , Porfiria Cutánea Tardía/diagnóstico , Porfiria Cutánea Tardía/genética , Porfiria Cutánea Tardía/terapia , Porfiria Eritropoyética/diagnóstico , Porfiria Eritropoyética/genética , Porfiria Eritropoyética/terapia , Porfirias/clasificación , Porfirias/diagnóstico , Porfirias/genética , Porfirias/terapia , Protoporfiria Eritropoyética/diagnóstico , Protoporfiria Eritropoyética/genética , Protoporfiria Eritropoyética/terapia , Piel/patología , Enfermedades Cutáneas Metabólicas/clasificación , Enfermedades Cutáneas Metabólicas/diagnóstico , Enfermedades Cutáneas Metabólicas/genética , Enfermedades Cutáneas Metabólicas/terapiaRESUMEN
No disponible
Asunto(s)
Humanos , Masculino , Femenino , Lactante , Hiperpigmentación/diagnóstico , Hiperpigmentación/terapia , Falanges de los Dedos de la Mano/patología , Enfermedades Cutáneas Metabólicas/complicaciones , Enfermedades Cutáneas Metabólicas/diagnóstico , Enfermedades Cutáneas Metabólicas/terapiaAsunto(s)
Humanos , Dermatología/educación , Dermatología/métodos , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/epidemiología , Enfermedades de la Piel/terapia , Fenómenos Fisiológicos de la Piel , Enfermedades Cutáneas Bacterianas/terapia , Enfermedades Cutáneas Eccematosas/terapia , Enfermedades Cutáneas Genéticas/terapia , Enfermedades Cutáneas Infecciosas/terapia , Enfermedades Cutáneas Metabólicas/terapia , Enfermedades Cutáneas Parasitarias/terapiaRESUMEN
Extracellular deposition of altered autologous protein (amyloid protein) within the dermis is the hallmark of cutaneous amyloidoses and systemic amyloidoses with cutaneous involvement. Amyloidoses may be acquired or hereditary in nature and subclassification differentiates between primary amyloidosis (no obvious predisposing disease) and secondary amyloidosis (specific underlying disease). More than 26 different proteins and peptides have been identified as amyloid precursors and these proteins are used to subclassify this heterogeneous group of diseases. The amyloid proteins show an anti-parallel beta-sheet conformation and form non-branching linear filaments of variable lengths and diameters of approximately 7.5 to 10 nm. However, the exact etiopathogenesis of amyloid formation still remains unclear. Depending on histoanatomical distribution and amount, amyloid may cause progressive and life-threatening organ dysfunction. Clinical presentation, histology, electron microscopy, and biochemical-immunological differentiation represent decisive tools for an accurate diagnosis.
Asunto(s)
Amiloidosis/diagnóstico , Enfermedades Cutáneas Genéticas/diagnóstico , Enfermedades Cutáneas Metabólicas/diagnóstico , Corticoesteroides/uso terapéutico , Amiloide/análisis , Amiloidosis/clasificación , Amiloidosis/genética , Amiloidosis/terapia , Fármacos Dermatológicos/uso terapéutico , Humanos , Grupo de Atención al Paciente , Grupos Raciales , Piel/patología , Enfermedades Cutáneas Genéticas/clasificación , Enfermedades Cutáneas Genéticas/terapia , Enfermedades Cutáneas Metabólicas/clasificación , Enfermedades Cutáneas Metabólicas/terapiaRESUMEN
Primary localized cutaneous nodular amyloidosis (PLCNA) is a form of primary localized cutaneous amyloidosis (PLCA) that presents as yellowish waxy nodules on the extremities, face, trunk, or genitalia. We report the case of a patient with PLCNA and CREST (calcinosis, Raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia) syndrome. A diagnosis of her extensive PLCNA was made after biopsy specimens from the bilateral shins stained positive for amyloid extending from the superficial papillary dermis to the subcutis. Results of a workup were negative for paraproteinemia or signs of systemic amyloidosis and have remained so after 8 years of follow-up. We present a review of the literature describing the presentation and histopathology of the varying forms of amyloidosis.
Asunto(s)
Amiloidosis/complicaciones , Amiloidosis/patología , Síndrome CREST/complicaciones , Síndrome CREST/patología , Enfermedades Cutáneas Metabólicas/complicaciones , Enfermedades Cutáneas Metabólicas/patología , Amiloidosis/terapia , Síndrome CREST/terapia , Femenino , Humanos , Persona de Mediana Edad , Enfermedades Cutáneas Metabólicas/terapiaRESUMEN
BACKGROUND: Macular amyloidosis is a primary form of skin amyloidosis with deposition of small to moderate amyloid material in the upper dermis and mild pigmentary incontinence with resultant clinical hyperpigmentation. OBJECTIVES: To determine the efficiency of Q-switched Nd:YAG laser (532 and 1064 nm) in reducing the pigmentations due to skin macular amyloidosis. METHODS: A prospective, side by side, controlled, clinical trial study was designed. Twenty subjects with clinical diagnosis and pathology confirmation of macular amyloidosis were treated with Q-switched Nd:YAG laser: 532 nm in a part of their plaques and with 1064 nm in another part of their plaques. Assessment of efficiency was done by colorimetric scores based on Mexameter measurement and also digital photographs before laser therapy and 8 weeks after treatment. RESULTS: Mexameter-based data analysis showed that the two lasers (Q-switched 532 and 1064 Nd:YAG) are effective in reducing the degree of macular amyloidosis patches pigmentation, and 532 nm is meaningfully more effective than 1064 nm in this matter. Photograph-based analysis showed that 90% of cases treated by 532 nm had good or very good response, and for the 1064 nm-treated patches, 60% of cases had the good or very good response. CONCLUSIONS: The results of study showed the net positive effect of Q-switched Nd:YAG laser, either 532 nm or 1064 nm, in pigment reduction of macular amyloidosis patches, but the 532-nm laser was more effective than 1064 laser.
Asunto(s)
Amiloidosis/terapia , Terapia por Láser/métodos , Trastornos de la Pigmentación/terapia , Enfermedades Cutáneas Metabólicas/terapia , Adolescente , Adulto , Anciano , Análisis de Varianza , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Resultado del TratamientoAsunto(s)
Artropatía Neurógena/etiología , Diabetes Mellitus Tipo 1/complicaciones , Enfermedades Cutáneas Metabólicas/etiología , Adulto , Artropatía Neurógena/diagnóstico , Artropatía Neurógena/fisiopatología , Artropatía Neurógena/terapia , Humanos , Masculino , Enfermedades Cutáneas Metabólicas/diagnóstico , Enfermedades Cutáneas Metabólicas/fisiopatología , Enfermedades Cutáneas Metabólicas/terapiaRESUMEN
Over the last years, the genetic basis of several monogenic inherited metabolic diseases has been elucidated. Interestingly, some of these disorders manifest with characteristic cutaneous symptoms that are often crucial for diagnosis. In most cases, however, besides the skin other organs are affected. Therefore, an interdisciplinary supervision of these patients is highly important. In this review we will discuss diseases that constitute a challenge not only for dermatologists but also for physicians from other specialties. A particular emphasis is put on genetic and clinical features of these disorders as well as current therapeutic concepts.
Asunto(s)
Errores Innatos del Metabolismo/genética , Enfermedades Cutáneas Metabólicas/genética , Diagnóstico Diferencial , Asesoramiento Genético , Pruebas Genéticas , Humanos , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/terapia , Grupo de Atención al Paciente , Pronóstico , Enfermedades Cutáneas Metabólicas/diagnóstico , Enfermedades Cutáneas Metabólicas/terapiaAsunto(s)
Amiloidosis/complicaciones , Poroqueratosis/complicaciones , Enfermedades Cutáneas Metabólicas/complicaciones , Administración Tópica , Amiloidosis/patología , Amiloidosis/terapia , Nalgas , Crioterapia , Humanos , Masculino , Persona de Mediana Edad , Poroqueratosis/patología , Poroqueratosis/terapia , Retinoides/uso terapéutico , Enfermedades Cutáneas Metabólicas/patología , Enfermedades Cutáneas Metabólicas/terapiaRESUMEN
The cutaneous deposition disorders are a group of unrelated conditions characterized by the presence of either endogenous or exogenous substances within the dermis or the subcutis. Part I of this two-part series will focus on metabolic processes involved in the endogenous deposition in the various forms of amyloidosis, porphyria, colloid milium, and lipoid proteinosis. We will also review the clinical, histologic, biochemical, and ultrastructural findings relevant to each disorder. Basic mechanisms of pathogenesis, diagnostic modalities, and treatment options are also discussed.